ALG11-CDG: Three novel mutations and further characterization of the phenotype

We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in one of them, neuronal heterotopia, and early lethal...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471160/
https://ncbi.nlm.nih.gov/pubmed/28649519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.11.006
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